Ataxia-Telangiectasia in Ophthalmology Follow-up

Author: Andrew A Dahl, MD; Chief Editor: Hampton Roy Sr, MD more...

Updated: May 7, 2010

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Further Outpatient Care
Deterrence/Prevention
Complications
Prognosis
Patient Education
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Further Outpatient Care

Respiratory infections should be monitored.
Physical therapy is indicated.

Deterrence/Prevention

The gene responsible for ataxia-telangiectasia, the ATM gene, was discovered in 1995. This gene makes a protein that activates a number of other proteins that control cell cycle, DNA repair, and cell death. There is ongoing preclinical and early clinical research on gene therapy to treat ataxia-telangiectasia and other diseases.

Complications

Complications may include the following:

Recurrent pulmonary infections
Progressive ataxia results in the patient being wheelchair ridden
Death

Prognosis

More than 50% of patients with ataxia-telangiectasia die of recurrent respiratory infections, and many of the remainder develop malignancies, such as leukemia or lymphomas.

Patient Education

Children with ataxia-telangiectasia should have psychologic counseling as they age because of the great disparity between chronological age and mental age in tests involving visual motor coordination.

Contributor Information and Disclosures

Author

Andrew A Dahl, MD Director of Ophthalmology Teaching, Mid-Hudson Family Practice Institute, The Institute for Family Health; Assistant Professor of Surgery (Ophthalmology), New York College of Medicine

Andrew A Dahl, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American College of Surgeons, American Medical Association, American Society of Cataract and Refractive Surgery, and Wilderness Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

Diego Calonje, MD Consulting Staff, Department of Ophthalmology, Private Practice

Disclosure: Nothing to disclose.

Sherif M El-Harazi, MD, MPH Consulting Staff, Department of Ophthalmology, Sherif El-Harazi, MD

Sherif M El-Harazi, MD, MPH is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Cataract and Refractive Surgery, and International Society of Refractive Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Gerhard W Cibis, MD Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas, Kansas City

Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

J James Rowsey, MD Former Director of Corneal Services, St Luke's Cataract and Laser Institute, Florida

J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association

Disclosure: Nothing to disclose.

Lance L Brown, OD, MD Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

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Albert DM, et al. Phakomatoses-Ataxia-Telangiectasia (Louis-Bar Syndrome). In: Principles and Practice of Ophthalmology Clinical Practice. Philadelphia: WB Saunders; 1994.
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Fireman P, et al. Ataxia-telangiectasia: a dysgammaglobulinemia with deficient Gamma 1A (B2A) Globulin. Lancet. 1964;1:1193-5.
Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. Dec 8 1988;336(6199):577-80. [Medline].
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